Variant report

Variant	rs10807175
Chromosome Location	chr6:36726853-36726854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:36726686-36727490	HCT-116	colon:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
2	CTCF	chr6:36726577-36727594	SK-N-SH	brain:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
3	CTCF	chr6:36726843-36727357	MCF-7	breast:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
4	JUN	chr6:36726589-36727430	K562	blood:	n/a	chr6:36727155-36727165 chr6:36727155-36727165
5	RAD21	chr6:36726824-36727376	ECC-1	luminal epithelium:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
6	FOXA1	chr6:36726837-36727195	HepG2	liver:	n/a	chr6:36727039-36727054
7	RAD21	chr6:36726827-36727252	A549	lung:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
8	RAD21	chr6:36726782-36727265	HepG2	liver:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
9	RAD21	chr6:36726793-36727415	A549	lung:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
10	SMC3	chr6:36726569-36727456	SK-N-SH	brain:	n/a	chr6:36727119-36727133
11	RAD21	chr6:36726623-36727383	SK-N-SH	brain:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
12	CUX1	chr6:36726835-36727168	K562	blood:	n/a	n/a
13	RAD21	chr6:36726742-36727368	MCF-7	breast:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
14	HCFC1	chr6:36726456-36727210	K562	blood:	n/a	n/a
15	RAD21	chr6:36726812-36727411	H1-hESC	embryonic stem cell:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
16	FOXA1	chr6:36726756-36727196	HepG2	liver:	n/a	chr6:36727039-36727054
17	CHD1	chr6:36726750-36727403	IMR90	lung:	n/a	n/a
18	RUNX3	chr6:36726818-36727256	GM12878	blood:	n/a	n/a
19	FOXA2	chr6:36726799-36727338	A549	lung:	n/a	n/a
20	CTCF	chr6:36726791-36727375	K562	blood:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
21	CTCF	chr6:36726827-36727290	A549	lung:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
22	MAZ	chr6:36726426-36727301	K562	blood:	n/a	n/a
23	FOXM1	chr6:36726802-36727319	GM12878	blood:	n/a	n/a
24	SMC3	chr6:36726828-36727298	GM12878	blood:	n/a	chr6:36727119-36727133
25	CTCF	chr6:36726834-36727293	HCT-116	colon:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
26	MAZ	chr6:36726738-36727410	IMR90	lung:	n/a	n/a
27	RAD21	chr6:36726575-36727352	HCT-116	colon:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
28	CTCF	chr6:36726798-36727395	HCT-116	colon:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
29	RAD21	chr6:36726850-36727345	ECC-1	luminal epithelium:	n/a	chr6:36727124-36727133 chr6:36727115-36727134
30	CTCF	chr6:36726635-36727484	A549	lung:	n/a	chr6:36727117-36727135 chr6:36727112-36727133 chr6:36727118-36727134
31	TEAD4	chr6:36726813-36727322	K562	blood:	n/a	n/a
32	FOXA1	chr6:36726782-36727287	HepG2	liver:	n/a	chr6:36727039-36727054

No.	Distal block	Cell Line	Cell type
1	chr6:36582648..36583548-chr6:36726442..36727575,5	MCF-7	breast:
2	chr6:36692117..36693169-chr6:36726597..36727520,3	MCF-7	breast:
3	chr6:36717692..36718483-chr6:36726667..36727520,2	K562	blood:
4	chr6:36589397..36591575-chr6:36726645..36728482,2	MCF-7	breast:
5	chr6:36589945..36592639-chr6:36726671..36728710,2	K562	blood:
6	chr6:36726638..36727646-chr6:36738357..36739663,3	K562	blood:
7	chr6:36725564..36727264-chr6:36727766..36730682,2	K562	blood:
8	chr6:36561839..36564756-chr6:36723772..36727529,4	MCF-7	breast:
9	chr6:36726753..36730019-chr6:36730894..36734737,3	K562	blood:
10	chr6:36590930..36591805-chr6:36726654..36727603,2	MCF-7	breast:
11	chr6:36270024..36270868-chr6:36726458..36727146,2	K562	blood:
12	chr6:36726691..36727400-chr6:36985380..36986272,2	K562	blood:
13	chr6:36692374..36694188-chr6:36726056..36729043,2	MCF-7	breast:
14	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
15	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
16	chr6:36590960..36591893-chr6:36725819..36727563,13	K562	blood:
17	chr6:36599641..36600175-chr6:36726501..36727115,2	K562	blood:
18	chr6:36582725..36583617-chr6:36726492..36727186,4	K562	blood:
19	chr6:36656125..36657871-chr6:36725735..36728109,2	MCF-7	breast:

Variant related genes	Relation type
CPNE5	TF binding region
ENSG00000124762	Chromatin interaction
ENSG00000263894	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10947628	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12198675	0.94[ASN][1000 genomes]
rs13193217	0.91[EUR][1000 genomes]
rs13203743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236426	0.90[ASN][1000 genomes]
rs236445	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4557518	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4714009	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs916295	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs916297	0.91[ASN][1000 genomes]
rs916304	0.89[ASN][1000 genomes]
rs9380596	0.87[AFR][1000 genomes]
rs9380598	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36709200-36727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:36718800-36727400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:36718800-36727400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:36719600-36727000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr6:36721400-36728600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:36721800-36733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:36722800-36727600	Enhancers	Stomach Mucosa	stomach
8	chr6:36722800-36748200	Weak transcription	Fetal Kidney	kidney
9	chr6:36723800-36727400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:36723800-36736200	Weak transcription	Right Atrium	heart
11	chr6:36724000-36728200	Weak transcription	Fetal Stomach	stomach
12	chr6:36724000-36736200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:36724200-36727200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:36724800-36727000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr6:36724800-36734400	Weak transcription	Right Ventricle	heart
16	chr6:36725000-36727400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:36725200-36727600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:36725400-36727600	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:36725600-36727600	Enhancers	GM12878-XiMat	blood
20	chr6:36725600-36727800	Enhancers	Primary B cells from cord blood	blood
21	chr6:36725600-36730000	Weak transcription	Spleen	Spleen
22	chr6:36725600-36733800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:36725800-36727400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:36725800-36728600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:36725800-36735400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:36726000-36736200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:36726200-36727000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:36726400-36727000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:36726400-36727000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr6:36726400-36727000	Enhancers	Fetal Intestine Large	intestine
31	chr6:36726400-36727000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:36726400-36727000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:36726400-36727000	Flanking Active TSS	K562	blood
34	chr6:36726400-36727400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:36726400-36727600	Enhancers	Colonic Mucosa	Colon
36	chr6:36726600-36727000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:36726600-36727000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:36726600-36727000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:36726600-36727000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:36726600-36727000	Enhancers	Fetal Heart	heart
41	chr6:36726600-36727000	Enhancers	Fetal Intestine Small	intestine
42	chr6:36726600-36727000	Enhancers	Fetal Muscle Leg	muscle
43	chr6:36726600-36727000	Flanking Active TSS	Placenta	Placenta
44	chr6:36726600-36727000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:36726600-36727000	Enhancers	Rectal Smooth Muscle	rectum
46	chr6:36726600-36727000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:36726600-36727000	Enhancers	A549	lung
48	chr6:36726600-36727000	Enhancers	HSMMtube	muscle
49	chr6:36726600-36727000	Enhancers	NHEK	skin
50	chr6:36726600-36727200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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